PMID: 25064003

Kuzaj P, Kuhn J, Dabisch-Ruthe M, Faust I, Gotting C, Knabbe C, Hendig D
ABCC6- a new player in cellular cholesterol and lipoprotein metabolism?
Lipids Health Dis. 2014 Jul 27;13:118. doi: 10.1186/1476-511X-13-118., [PubMed]
Sentences
No. Mutations Sentence Comment
228 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25064003:228:131
status: NEW
view ABCC6 p.Arg1141* details
ABCC6 p.Ser317Arg
X
ABCC6 p.Ser317Arg 25064003:228:119
status: NEW
view ABCC6 p.Ser317Arg details
 Pisciotta et al. examined a hypercholesterolemic PXE patient, who was compound-heterozygous for two ABCC6 mutations (p.S317R and p.R1141X) and for further mutations in candidate genes causing autosomal co-dominant hypercholesterolemia [54]. Login to comment